High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.
Brain Behav
; 7(4): e00669, 2017 04.
Article
em En
| MEDLINE
| ID: mdl-28413711
ABSTRACT
BACKGROUND:
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the degeneration of the motor neurons. To date, 126 genes have been implicated in ALS. Therefore, the heterogenous genetic background of ALS requires comprehensive genetic investigative approaches.METHODS:
In this study, DNA from 28 Hungarian ALS patients was subjected to targeted high-throughput sequencing of the coding regions of three Mendelian ALS genes FUS, SETX, and C9ORF72.RESULTS:
A novel heterozygous missense mutation (c.791A>G, p.N264S) of the SETX gene was identified in a female patient presenting an atypical ALS phenotype, including adult onset and lower motor neuron impairment. No further mutations were detected in the other Mendelian ALS genes investigated.CONCLUSION:
Our study contributes to the understanding of the genetic and phenotypic diversity of motor neuron diseases (MNDs). Our results also suggest that the elucidation of the genetic background of MNDs requires a complex approach, including the screening of both Mendelian and non-Mendelian genes.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
RNA Helicases
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Mutação de Sentido Incorreto
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Esclerose Lateral Amiotrófica
Tipo de estudo:
Prognostic_studies
Limite:
Aged
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Female
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Humans
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article